Evidence map›Paper›PMID 21210740›Full record

ReviewSystems biology in reproductive medicine2011

Structural variation of the human genome: mechanisms, assays, and role in male infertility.

Claudia M B Carvalho, Feng Zhang, James R Lupski

Open access · bronzeAbstract readReview
In one paragraph

Review in Systems biology in reproductive medicine, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
2.8field-weighted citation impact, top 10% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 36 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. The Y chromosome and its use in forensic DNA analysis.Emerging topics in life sciences · 2021
    Article
  5. Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2020
    Article
  6. The Rich World of p53 DNA Binding Targets: The Role of DNA Structure.International journal of molecular sciences · 2019
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 2 countries.

Claudia M B CarvalhoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030-3498, USA.
Feng Zhang
James R Lupski
Baylor College of Medicine · USState Key Laboratory of Genetic Engineering

Funding

ZOLENDRONIC ACID IN CHILDREN W/ SEVERE OSTEOGENESIS IMPERFECTAM01RR000188 · NCRR · BAYLOR COLLEGE OF MEDICINE · PI SHEARER, WILLIAM THOMAS · 1985 to 2011
$30.6M
UNDERSTANDING FXTAS AMONG MALES WITH THE FMR1 PREMUTATIONP30HD024064 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI TOLIAS, KIMBERLY R · 1988 to 2013
$29.4M
Nonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0M
NCRR NIH HHS M01 RR000188NCRR NIH HHS M01RR00188NICHD NIH HHS P30 HD024064NICHD NIH HHS P30HD024064NINDS NIH HHS R01 NS058529NINDS NIH HHS R01NS058529
6 · The paper itself

Abstract

Genomic disorders are defined as diseases caused by rearrangements of the genome incited by a genomic architecture that conveys instability. Y-chromosome related dysfunctions such as male infertility are frequently associated with gross DNA rearrangements resulting from its peculiar genomic architecture. The Y-chromosome has evolved into a highly specialized chromosome to perform male functions, mainly spermatogenesis. Direct and inverted repeats, some of them palindromes with highly identical nucleotide sequences that can form DNA cruciform structures, characterize the genomic structure of the Y-chromosome long arm. Some particular Y chromosome genomic deletions can cause spermatogenic failure likely because of removal of one or more transcriptional units with a potential role in spermatogenesis. We describe mechanisms underlying the formation of human genomic rearrangements on autosomes and review Y-chromosome deletions associated with male infertility.

Indexed as

Gene RearrangementChromosome DeletionChromosomes, Human, YEpistasis, GeneticGenetic LociGenome, HumanHumansInfertility, MaleMaleSeminal Plasma ProteinsSex Chromosome AberrationsSex Chromosome Disorders of Sex DevelopmentSeminal Plasma Proteins

Identifiers

PMID21210740
PMCPMC3179416
OpenAlexW2005283101

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.